Rowan Forbes Shepherd1,2,3, Alexandra Lewis1, Louise A Keogh4, Allison Werner-Lin5, Martin B Delatycki3,6,7, Laura E Forrest1,2. 1. 1 Familial Cancer Centre, Peter MacCallum Cancer Centre , Melbourne, Australia . 2. 2 Sir Peter MacCallum Department of Oncology, The University of Melbourne , Melbourne, Australia . 3. 3 Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute , Parkville, Australia . 4. 4 Melbourne School of Population and Global Health, The University of Melbourne , Melbourne, Australia . 5. 5 School of Social Policy and Practice, The University of Pennsylvania , Philadelphia, Pennsylvania. 6. 6 Department of Paediatrics, The University of Melbourne , Melbourne, Australia . 7. 7 Victorian Clinical Genetics Service , Parkville, Australia .
Abstract
PURPOSE: Li-Fraumeni syndrome (LFS), a multiorgan cancer predisposition caused by germline TP53 mutations, confers significant cancer risks for young people (15-39 years). Yet evidence of how individuals experience this condition and the psychosocial implications are lacking. Therefore, this systematic review assessed the psychosocial implications of living with, or at risk of, an autosomal dominant condition as a young person, to draw evidence that may be analogous for young people with LFS. METHODS: We conducted a systematic search for studies published in peer-reviewed journals using Medline, CINAHL, PsycINFO, and Embase databases. Findings were synthesized and are reported thematically. RESULTS: We screened 352 articles and identified 39 studies, representing the perspectives of 765 young people. Most studies addressed hereditary breast and ovarian cancer (n = 22) and used qualitative methodologies (n = 35). Only one LFS study was identified, highlighting the distinct lack of psychosocial research describing experiences of young people with LFS. Translatable evidence showed that familial factors strongly influenced young people's experiences of genetic testing and their mutation status. Major adverse reactions to genetic test results were rare, although young people with a gene mutation experienced various psychosocial concerns at key developmental milestones, including family planning, developing romantic relationships, and making risk management decisions. CONCLUSION: Young people undergoing genetic testing for inherited disease require individualized support and recognition of previous lived experiences. We recommend that longitudinal care be made available to young people with inherited disease as they reach developmental milestones that intersect with risk management, risk perception, and family formation.
PURPOSE:Li-Fraumeni syndrome (LFS), a multiorgan cancer predisposition caused by germline TP53 mutations, confers significant cancer risks for young people (15-39 years). Yet evidence of how individuals experience this condition and the psychosocial implications are lacking. Therefore, this systematic review assessed the psychosocial implications of living with, or at risk of, an autosomal dominant condition as a young person, to draw evidence that may be analogous for young people with LFS. METHODS: We conducted a systematic search for studies published in peer-reviewed journals using Medline, CINAHL, PsycINFO, and Embase databases. Findings were synthesized and are reported thematically. RESULTS: We screened 352 articles and identified 39 studies, representing the perspectives of 765 young people. Most studies addressed hereditary breast and ovarian cancer (n = 22) and used qualitative methodologies (n = 35). Only one LFS study was identified, highlighting the distinct lack of psychosocial research describing experiences of young people with LFS. Translatable evidence showed that familial factors strongly influenced young people's experiences of genetic testing and their mutation status. Major adverse reactions to genetic test results were rare, although young people with a gene mutation experienced various psychosocial concerns at key developmental milestones, including family planning, developing romantic relationships, and making risk management decisions. CONCLUSION: Young people undergoing genetic testing for inherited disease require individualized support and recognition of previous lived experiences. We recommend that longitudinal care be made available to young people with inherited disease as they reach developmental milestones that intersect with risk management, risk perception, and family formation.
Entities:
Keywords:
Li-Fraumeni syndrome; inherited condition; psychosocial; systematic review; young people
Authors: Ashley Pantaleao; Jennifer L Young; Norman B Epstein; Mae Carlson; Renée C Bremer; Payal P Khincha; June A Peters; Mark H Greene; Kevin Roy; Maria Isabel Achatz; Sharon A Savage; Allison Werner-Lin Journal: Fam Process Date: 2019-10-24
Authors: Catherine Wilsnack; Jennifer L Young; Shana L Merrill; Victoria Groner; Jennifer T Loud; Renee C Bremer; Mark H Greene; Payal P Khincha; Allison Werner-Lin Journal: Health Soc Work Date: 2021-11-16
Authors: Allison Werner-Lin; Jennifer L Young; Catherine Wilsnack; Shana L Merrill; Victoria Groner; Mark H Greene; Payal P Khincha Journal: Fam Cancer Date: 2020-07 Impact factor: 2.375